Canonical Allele Identifier: CA394673771

Gene: ALG1

Linked Data

• ClinVar Variation Id: 1961011
• ClinVar RCV Id: RCV002706767
• dbSNP Id: rs1293522169
• gnomAD v2: 16-5132577-G-A
• gnomAD v3: 16-5082576-G-A
• gnomAD v4: 16-5082576-G-A
• MyVariant Identifiers: chr16:g.5132577G>A (hg19) ; chr16:g.5082576G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5082576G>A , CM000678.2:g.5082576G>A	GRCh38
NC_000016.9:g.5132577G>A , CM000678.1:g.5132577G>A	GRCh37
NC_000016.8:g.5072578G>A	NCBI36
NG_009202.1:g.15768G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.3226G>A
ENST00000682020.1:c.496G>A	ENSP00000508075.1:p.Val166Ile
ENST00000682206.1:c.*185G>A	ENSP00000508285.1:n.*185G>A
ENST00000682314.1:n.1138G>A
ENST00000682327.1:c.562G>A	ENSP00000507058.1:p.Val188Ile
ENST00000682349.1:n.3232G>A
ENST00000682703.1:n.4058G>A
ENST00000682797.1:c.*182G>A	ENSP00000507582.1:n.*182G>A
ENST00000682985.1:c.601G>A	ENSP00000507598.1:p.Val201Ile
ENST00000683433.1:c.349G>A	ENSP00000507463.1:p.Val117Ile
ENST00000683685.1:n.1964G>A
ENST00000683710.1:c.*1057G>A	ENSP00000506785.1:n.*1057G>A
ENST00000683739.1:c.757G>A	ENSP00000507002.1:p.Val253Ile
ENST00000683772.1:n.1134G>A
ENST00000684008.1:c.1028G>A	ENSP00000507962.1:n.1028G>A
ENST00000684190.1:c.1051G>A	ENSP00000507554.1:p.Val351Ile
ENST00000684335.1:c.979G>A	ENSP00000508112.1:p.Val327Ile
ENST00000262374.10:c.1090G>A MANE Select	ENSP00000262374.5:p.Val364Ile
ENST00000650085.1:n.1914G>A
ENST00000262374.9:c.1090G>A	ENSP00000262374.4:p.Val364Ile
ENST00000544428.1:c.757G>A	ENSP00000440019.1:p.Val253Ile
ENST00000588623.5:c.757G>A	ENSP00000468118.1:p.Val253Ile
ENST00000591822.5:c.*991G>A	ENSP00000467865.1:n.*991G>A
NM_019109.4:c.1090G>A	NP_061982.3:p.Val364Ile
XM_011522565.1:c.757G>A	XP_011520867.1:p.Val253Ile
NM_001330504.1:c.757G>A	NP_001317433.1:p.Val253Ile
XM_017023457.2:c.1051G>A	XP_016878946.1:p.Val351Ile
XM_017023458.1:c.757G>A	XP_016878947.1:p.Val253Ile
XR_932882.3:n.1119G>A
NM_019109.5:c.1090G>A MANE Select	NP_061982.3:p.Val364Ile
NM_001330504.2:c.757G>A	NP_001317433.1:p.Val253Ile